Zobrazeno 1 - 10 of 362 pro vyhledávání: '"N. Besley"'
1
Akademický článek
Time-Resolved Chiral X-Ray Photoelectron Spectroscopy with Transiently Enhanced Atomic Site Selectivity: A Free-Electron Laser Investigation of Electronically Excited Fenchone Enantiomers
Autor: D. Faccialà, M. Devetta, S. Beauvarlet, N. Besley, F. Calegari, C. Callegari, D. Catone, E. Cinquanta, A. G. Ciriolo, L. Colaizzi, M. Coreno, G. Crippa, G. De Ninno, M. Di Fraia, M. Galli, G. A. Garcia, Y. Mairesse, M. Negro, O. Plekan, P. Prasannan Geetha, K. C. Prince, A. Pusala, S. Stagira, S. Turchini, K. Ueda, D. You, N. Zema, V. Blanchet, L. Nahon, I. Powis, C. Vozzi
Publikováno v: Physical Review X, Vol 13, Iss 1, p 011044 (2023)
Chirality is widespread in nature, playing a fundamental role in biochemical processes and in the origin of life itself. The observation of dynamics in chiral molecules is crucial for the understanding and control of the chiral activity of photoexcit
Externí odkaz: https://doaj.org/article/08607be60e024b88bf8837847833d35b
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2
Core-level Time Resolved Spectroscopy of Photoelectron Circular Dichroism in Fenchone
Autor: Caterina Vozzi, M. Di Fraia, Salvatore Stagira, Kevin C. Prince, Michele Devetta, Prabhash Prasannan Geetha, Davide Faccialà, M. Coreno, Francesca Calegari, Matteo Negro, Anna G. Ciriolo, Carlo Callegari, Daniele Catone, S. Beauvarlet, Valérie Blanchet, N. Besley, G. Garcia, Ken-ichi Ueda, Aditya Pusala, Ivan Powis, Nicola Zema, G. De Ninno, Eugenio Cinquanta, Lorenzo Colaizzi, S. Turchini, Daehyun You, Oksana Plekan, Yann Mairesse, G. Crippa, Mara Galli, Laurent Nahon
Publikováno v: International Conference on Ultrafast Phenomena 2020, Washington, D.C. USA, 16-19 November 2020
info:cnr-pdr/source/autori:Faccialà, D.; Devetta, M.; Beauvarlet, S.; Besley, N.; Calegari, F.; Callegari, C.; Catone, D.; Cinquanta, E.; Ciriolo, A.; Colaizzi, L.; Coreno, M.; Crippa, G.; De Ninno, G.; Di Fraia, M.; Galli, M.; Garcia, G.; Mairesse, Y.; Negro, M.; Plekan, O.; Powis, I.; Prasannan Geetha, P.; Prince, K.; Pusala, A.; Stagira, S.; Turchini, S.; Ueda, K.; You, D.; Zema, N.; Nahon, L.; Blanchet, V.; Vozzi, C./congresso_nome:International Conference on Ultrafast Phenomena 2020/congresso_luogo:Washington, D.C. USA/congresso_data:16-19 November 2020/anno:2020/pagina_da:/pagina_a:/intervallo_pagine
We measured the chiral relaxation of photoexcited Fenchone at the Carbon K-edge. Our results demonstrate that ultrafast chiral dynamics can be probed using core level spectroscopy with circularly polarized free-electron laser pulses.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77c2302e28b9e4a725ebc3760e6269a9
https://doi.org/10.1364/up.2020.m3b.5
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3
Akademický článek
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4
Akademický článek
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5
Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants
Autor: M. Downing, G. T. N. Besley, M Cortina-Borja, J Leonard, J Oerton, M Henderson, Carol Dezateux, A Green, R N Dalton, Javaria M Khalid, Brage S. Andresen
Publikováno v: Khalid, J M, Oerton, J, Cortina-Borja, M, Andresen, B S, Besley, G, Dalton, R N, Downing, M, Green, A, Henderson, M, Leonard, J, Dezateux, C & UK Collaborative Study of Newborn Screening for MCADD 2008, ' Ethnicity of children with homozygous c.985A >G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants ', Journal of Medical Screening, vol. 15, no. 3, pp. 112-7 . https://doi.org/10.1258/jms.2008.008043
Objectives It has been suggested that homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a disease of White ethnic origin but little is known regarding its ethnic distribution. We estimated ethnic-specific homozygous c.985A
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdecf89e46160c1be955eb7127f531cc
https://doi.org/10.1258/jms.2008.008043
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6
Full expression of Hunter's disease in a female with an X-chromosome deletion leading to non-random inactivation
Autor: Jean M Kirk, Guy T. N. Besley, D. M. Broadhead, A. J. Burt, Vidya Gupta, Patricia M. Ellis
Publikováno v: Clinical Genetics. 30:392-398
A 2.5-year-old girl who presented with abdominal distension, hepatomegaly, coarse facies, hirsutism and contraction deformities was investigated for mucopolysaccharidoses. Urinary excretion showed increased total glycosaminoglycans (105 mg/mmol creat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50bfc0bf69be9cc4307c7ce673e7c80c
https://doi.org/10.1111/j.1399-0004.1986.tb01896.x
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7
Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation
Autor: Simon E. Olpin, T. J. de Koning, B. T. Poll-The, Vivian E. Shih, Ruud Berger, M. A. Cleary, M. Duran, G. T. N. Besley, Roseann Mandell, Lambertus Dorland
Publikováno v: Journal of inherited metabolic disease, 28(5), 673-679. Springer Netherlands
We describe two unrelated cases of ornithine aminotransferase (OAT) deficiency with rare neonatal presentation of hyperammonaemia. The diagnosis in the neonatal presentation of OAT deficiency is hampered as hyperornithinaemia is absent. Enzyme and mu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21abfd0b8105f2a8c46850005e9741ba
https://doi.org/10.1007/s10545-005-0074-1
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8
Juvenile Sandhoff disease-Nine new cases and a review of the literature
Autor: C. D. Ferrie, James E. Wraith, Alan Cooper, P. C. Corry, Christian J. Hendriksz, G. T. N. Besley
Publikováno v: Journal of Inherited Metabolic Disease. 27:241-249
Juvenile Sandhoff disease (McKusick 268800) is a rare lysosomal storage disorder with only 12 cases recorded in the literature. This condition is also referred to as the subacute form of hexosaminidase deficiency. We describe 9 new cases of Pakistani
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4130d7c1e4aa43ce4b791377db172fec
https://doi.org/10.1023/b:boli.0000028777.38551.5a
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9
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man
Autor: Jos P.N. Ruiter, Rodney J. Pollitt, R. J. A. Wanders, Simon E. Olpin, Nigel J. Manning, J. Mcmenamin, G. T. N. Besley
Publikováno v: Journal of inherited metabolic disease, 25(6), 477-482. Springer Netherlands
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (EC 1.1.1.178) deficiency is a recently described defect of isoleucine catabolism. The disorder is characterized by normal early development followed by a progressive loss of mental and motor skills. Deteri
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e46751327839bfffd08256c6533df748
https://doi.org/10.1023/a:1021251202287
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10
NovelOCTN2 mutations: No genotype-phenotype correlations: Early carnitine therapy prevents cardiomyopathy
Autor: G. T. N. Besley, Rodney J. Pollitt, Linda De Meirleir, Ivo Barić, Ingrid Tein, Carlo Dionisi-Vici, Ljerka Cvitanovic-Sojat, Anne Marie Lamhonwah, P. Divry, Simon E. Olpin, Miljenka Maradin, Russell Onizuka, Christine Vianey-Saban, Nathalie Guffon, Ksenija Fumić
Publikováno v: American Journal of Medical Genetics. 111:271-284
Primary systemic carnitine deficiency or carnitine uptake defect (OMIM 212140) is a potentially lethal, autosomal recessive disorder characterized by progressive infantile-onset cardiomyopathy, weakness, and recurrent hypoglycemic hypoketotic encepha
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c779178e34bb52a93fd812f4be624499
https://doi.org/10.1002/ajmg.10585
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